Overview

Variant ID 27768
Entrez Gene ID 2262
Gene GPC5 (GeneCards)
Location hg19 13:92387911-92387911
hg38 13:91735657-91735657
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000013.10:g.92387911 G>A (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 115169878

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0917
CADD Raw score (version 1.3) 0.062927 (Deleterious)
FATHMM raw prediction score 0.08872 (Tolerated)
Deleterious probability by DeFine 0.1872 (Neutral)
Entrez Gene ID 2262 (NCBI Gene)
Official Gene Symbol GPC5 (GeneCards)
Number of variants in GPC5 in this database 20 (view all the variants)
Full name glypican 5
Band 13q31.3
Other IDs Vega: OTTHUMG00000017200
OMIM: 602446
HGNC: HGNC:4453
Ensembl: ENSG00000179399
Other names None
Summary Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID